Canonical Allele Identifier: CA2148330401

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77287096_77287097delinsTG , CM000676.2:g.77287096_77287097delinsTG	GRCh38
NC_000014.8:g.77753439_77753440delinsTG , CM000676.1:g.77753439_77753440delinsTG	GRCh37
NC_000014.7:g.76823192_76823193delinsTG	NCBI36
NG_008897.1:g.38786_38787delinsCA , LRG_844:g.38786_38787delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.795-275_795-274delinsCA	ENSP00000451967.2:n.795-275_795-274delinsCA
ENST00000682247.1:c.1254-275_1254-274delinsCA	ENSP00000507213.1:n.1254-275_1254-274delinsCA
ENST00000682382.1:c.826-275_826-274delinsCA
ENST00000682395.1:n.1157_1158delinsCA
ENST00000682459.1:n.956+136_956+137delinsCA
ENST00000682467.1:c.1254-275_1254-274delinsCA	ENSP00000508062.1:n.1254-275_1254-274delinsCA
ENST00000682795.1:c.1254-275_1254-274delinsCA	ENSP00000507574.1:n.1254-275_1254-274delinsCA
ENST00000682895.1:n.970-275_970-274delinsCA
ENST00000682955.1:n.542-275_542-274delinsCA
ENST00000683188.1:c.954_955delinsCA
ENST00000683328.1:c.247-275_247-274delinsCA	ENSP00000508096.1:n.247-275_247-274delinsCA
ENST00000683380.1:n.918-275_918-274delinsCA
ENST00000683828.1:c.963-275_963-274delinsCA
ENST00000684259.1:n.1105-275_1105-274delinsCA
ENST00000684549.1:n.805-275_805-274delinsCA
ENST00000261534.9:c.1254-275_1254-274delinsCA MANE Select	ENSP00000261534.4:n.1254-275_1254-274delinsCA
ENST00000261534.8:c.1254-275_1254-274delinsCA	ENSP00000261534.4:n.1254-275_1254-274delinsCA
ENST00000452340.7:n.1277-275_1277-274delinsCA
ENST00000553880.5:n.125-275_125-274delinsCA
ENST00000554767.5:n.2040-275_2040-274delinsCA
ENST00000554884.5:n.246-275_246-274delinsCA
ENST00000556404.1:n.113_114delinsCA
ENST00000556851.1:n.289+136_289+137delinsCA
ENST00000557675.5:n.344-275_344-274delinsCA
NM_013382.5:c.1254-275_1254-274delinsCA , LRG_844t1:c.1254-275_1254-274delinsCA	NP_037514.2:n.1254-275_1254-274delinsCA
XM_011536675.1:c.1254-275_1254-274delinsCA	XP_011534977.1:n.1254-275_1254-274delinsCA
XM_011536676.1:c.921-275_921-274delinsCA	XP_011534978.1:n.921-275_921-274delinsCA
XM_011536677.1:c.795-275_795-274delinsCA	XP_011534979.1:n.795-275_795-274delinsCA
XM_011536678.1:c.1254-275_1254-274delinsCA	XP_011534980.1:n.1254-275_1254-274delinsCA
XM_011536679.1:c.348-275_348-274delinsCA	XP_011534981.1:n.348-275_348-274delinsCA
XM_011536680.1:c.*132_*133delinsCA	XP_011534982.1:n.*132_*133delinsCA
XR_943416.1:n.1457-275_1457-274delinsCA
XM_011536675.2:c.1254-275_1254-274delinsCA	XP_011534977.1:n.1254-275_1254-274delinsCA
XM_011536676.2:c.921-275_921-274delinsCA	XP_011534978.1:n.921-275_921-274delinsCA
XM_011536677.3:c.795-275_795-274delinsCA	XP_011534979.1:n.795-275_795-274delinsCA
XR_001750279.1:n.1454-275_1454-274delinsCA
XR_001750282.1:n.1632_1633delinsCA
XR_943416.3:n.1455-275_1455-274delinsCA
NM_013382.6:c.1254-275_1254-274delinsCA	NP_037514.2:n.1254-275_1254-274delinsCA
NM_013382.7:c.1254-275_1254-274delinsCA MANE Select	NP_037514.2:n.1254-275_1254-274delinsCA